Varaico: Literature-Extracted Genetic Variants

CCN6

174 papers

RefSeq Summary

This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cystein...

Pfam Domains

IGFBPaa 48–100UCSCInsulin-like growth factor binding protein

TSP1_CCNaa 209–252UCSCCCN3 Nov like TSP1 domain

Cys_knotaa 265–353UCSCCystine-knot domain

Gene Aliases

HGNC Name

cellular communication network factor 6

HGNC Previous Symbol

WISP3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_198239.2

p.I249delFs

c.746delT

Surrounding Variants

1 paper

NM_198239.2

p.Q250fs

c.748_749fs

7 papers

NM_198239.2

p.C247fs

c.739_740fs

3 papers

NM_198239.2

p.L246P

c.737T>C

11 papers

NM_198239.2

p.C247delFs

c.740_741delGT

1 paper

NM_198239.2

p.L246del1

c.736_737delCTG

7 papers

NM_198239.2

p.C252*

c.756C>A

1 paper

NM_198239.2

p.C252W

c.756C>G

1 paper

NM_198239.2

p.E243fs

c.727_728fs

6 papers

NM_198239.2

p.E243fs

c.727_728fs

1 paper

NM_198239.2

p.N255S

c.764A>G

7 papers

NM_198239.2

p.K242fs

c.724_725fs

6 papers

NM_198239.2

p.E243_K244delFs

c.727_731del5